Journal of Hematology & Thromboembolic Diseases
Open Access

Mild haemophilia A and B: from bleeding phenotype to illness perception

3^rd European Congress on Hematology

July 11, 2022 | Webinar

Marta Mattana, Cristina Rotolo, Riccardo Tomasello, Claudia Cammarata, Francesco Romano, Alessandro Lucchesi, Giulio Giordano, Sergio Siragusa, Mariasanta Napolitano

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (ProMISE), University of Palermo, Italy
IRCCS Istituto Romagnolo per lo studio dei tumori (IRST)�?�Dino Amadori�?�, Italy
Division of Internal Medicine, Hematology Service, Regional Hospital �??A. Cardarelli�?�, Italy

Scientific Tracks Abstracts: J Hematol Thromb Dis

Abstract :

Mild haemophilia (MH) is defined by FVIII or FIX activity (FVIII:c / FIX:c) of 5-40%. Data on MH are scarce; clinical evidence and guidelines are derived from severe haemophilia. This study aims to evaluate differences in clinical, factor activity and quality of life between patients with factor activity below and above 10%. This retrospective study enrolled 42 male patients with MH of average age 42.6 +/- 23.4yo affected by MH, diagnosed in our Centre from 2012 to 2021. Patients were divided into two groups: A for patients with factor activity <10% (n=14), B for patients with factor activity ≥10% (n=28). The Chi-square test was used for normally distributed continuous data analysis. A p-value <0.05 was considered statistically significant. Twenty patients (8 from group A and 12 from group B) filled the SF36 and ED-5Q questionnaires, the results expressed as a percentage. Haemorrhagic manifestations and related therapies are shown in Figure 1. All the enrolled patients were treated on demand except for two, under continuous prophylaxis for recurrent bleeding. The analysis revealed in-group A a higher incidence (p<0.05) of hemarthrosis and spontaneous bleeding than in-group B. There were no differences regarding bleeding secondary to trauma or surgery. SF36 questionnaire scored above average in the area of physical function, and below average in the area of emotional aspects. The impact of the disease on daily life is important and unrelated to factor activity. The ED-5Q data are congruent with the SF36 data. Disease awareness was also assessed with results consistently above 70%. The results of our analysis confirm that among patients with MH, the most frequent bleeding events are secondary to trauma or surgery. Spontaneous bleeding and hemarthrosis are more common in patients with factor activity below 10%. MH negatively impacts patients’ quality of life.

Biography :

Marta Mattana is currently a final-year resident in haematology since 2018 and also a first-year doctoral candidate in the field of hemophilia since January 2022 at the University of Palermo . She completed her medical studies at the University of Palermo in 2017. The main research field is haemophilia, but she is also interested in other clinical research on various hematological diseases. He is a member of several Italian societies such as SIE and SISET.